Canonical Allele Identifier: CA982008301

Gene: ATPAF2

Linked Data

• dbSNP Id: rs2044410432
• gnomAD v3: 17-18018117-T-C
• gnomAD v4: 17-18018117-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018117T>C , CM000679.2:g.18018117T>C	GRCh38
NC_000017.10:g.17921431T>C , CM000679.1:g.17921431T>C	GRCh37
NC_000017.9:g.17862156T>C	NCBI36
NG_012824.1:g.26050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*432A>G MANE Select	ENSP00000417190.2:n.*432A>G
ENST00000462733.5:c.*150-1857A>G	ENSP00000463920.1:n.*150-1857A>G
ENST00000474627.7:c.*432A>G	ENSP00000417190.2:n.*432A>G
ENST00000584205.5:c.*33+6507A>G	ENSP00000462899.1:n.*33+6507A>G
ENST00000585101.5:c.*34-1857A>G	ENSP00000463861.1:n.*34-1857A>G
NM_145691.3:c.*432A>G	NP_663729.1:n.*432A>G
XM_011524062.1:c.732+3006A>G	XP_011522364.1:n.732+3006A>G
XM_011524063.1:c.732+3006A>G	XP_011522365.1:n.732+3006A>G
XM_011524064.1:c.432+3006A>G	XP_011522366.1:n.432+3006A>G
XM_011524065.1:c.733-1857A>G	XP_011522367.1:n.733-1857A>G
XM_011524066.1:c.195+3006A>G	XP_011522368.1:n.195+3006A>G
XM_011524065.2:c.733-1857A>G	XP_011522367.1:n.733-1857A>G
XM_017025303.1:c.433-1857A>G	XP_016880792.1:n.433-1857A>G
XR_001752677.2:n.1699A>G
NM_145691.4:c.*432A>G MANE Select	NP_663729.1:n.*432A>G